UMOD gene related symptoms and diseases

All the information presented here about the UMOD gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to UMOD gene

Symptoms // Phenotype % Cases
Renal insufficiency Common - Between 50% and 80% cases
Abnormality of the kidney Common - Between 50% and 80% cases
Stage 5 chronic kidney disease Common - Between 50% and 80% cases
Renal cyst Common - Between 50% and 80% cases
Hyperuricemia Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with UMOD gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Nephropathy
  • Nephritis
  • Gout
  • Tubulointerstitial nephritis
  • Arthritis
  • Multiple glomerular cysts
  • Rarely - Less than 30% cases

  • Hyperechogenic kidneys
  • Polycystic kidney dysplasia

And 10 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to UMOD gene

Here you will find a list of rare diseases related to the UMOD. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MEDULLARY CYSTIC KIDNEY DISEASE 2; MCKD2


Alternate names

MEDULLARY CYSTIC KIDNEY DISEASE 2; MCKD2 Is also known as admckd2, medullary cystic kidney disease 2, autosomal dominant

Description

Medullary cystic kidney disease (MCKD) is an autosomal dominant form of tubulointerstitial nephropathy characterized by formation of renal cysts at the corticomedullary junction. It is characterized by adult onset of impaired renal function and salt wasting resulting in end-stage renal failure by the sixth decade (Wolf et al., 2004).For a general phenotypic description and a discussion of genetic heterogeneity of medullary cystic kidney disease, see MCKD1 (OMIM ).

Most common symptoms of MEDULLARY CYSTIC KIDNEY DISEASE 2; MCKD2

  • Renal insufficiency
  • Arthritis
  • Abnormality of the kidney
  • Stage 5 chronic kidney disease
  • Nephropathy


More info about MEDULLARY CYSTIC KIDNEY DISEASE 2; MCKD2

SOURCES: OMIM

FAMILIAL JUVENILE HYPERURICEMIC NEPHROPATHY TYPE 1


Alternate names

FAMILIAL JUVENILE HYPERURICEMIC NEPHROPATHY TYPE 1 Is also known as familial nephropathy with gout, umod-associated fjhn, hnfj, familial juvenile hyperuricemic nephropathy, gouty nephropathy, familial juvenile, familial juvenile gouty nephropathy, fjhn type 1, fjhn, hyperuricemic nephropathy, familial juvenile, umod-associated fam

Description

Familial juvenile hyperuricemic nephropathy type 1 (FJHN1) is a rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age.

Most common symptoms of FAMILIAL JUVENILE HYPERURICEMIC NEPHROPATHY TYPE 1

  • Hypertension
  • Renal insufficiency
  • Arthritis
  • Abnormality of the kidney
  • Stage 5 chronic kidney disease


More info about FAMILIAL JUVENILE HYPERURICEMIC NEPHROPATHY TYPE 1

SOURCES: OMIM ORPHANET

GLOMERULOCYSTIC KIDNEY DISEASE WITH HYPERURICEMIA AND ISOSTHENURIA


Description

Glomerulocystic kidney disease is characterized by cystic dilatation of the Bowman space and the initial proximal convoluted tubule. Both sporadic and familial occurrences have been observed. Sharp et al. (1997) noted that GCKD had primarily been recognized in infants with a family history of classic, autosomal dominant polycystic kidney disease (PKD). However, dominantly transmitted GCKD associated with either hypoplastic or normal-sized kidneys has also been reported in older children and adults. Hypoplastic GCKD has been identified in some families with mutations in the TCF2 gene (OMIM ) as part of the clinical phenotype of renal cysts and diabetes syndrome (OMIM ).

Most common symptoms of GLOMERULOCYSTIC KIDNEY DISEASE WITH HYPERURICEMIA AND ISOSTHENURIA

  • Renal insufficiency
  • Dilatation
  • Proteinuria
  • Abnormality of the kidney
  • Stage 5 chronic kidney disease


More info about GLOMERULOCYSTIC KIDNEY DISEASE WITH HYPERURICEMIA AND ISOSTHENURIA

SOURCES: MESH OMIM

UMOD-RELATED AUTOSOMAL DOMINANT TUBULOINTERSTITIAL KIDNEY DISEASE


Alternate names

UMOD-RELATED AUTOSOMAL DOMINANT TUBULOINTERSTITIAL KIDNEY DISEASE Is also known as autosomal dominant medullary cystic kidney disease type 2, mckd2, adtkd-umod, umod-related adtkd


More info about UMOD-RELATED AUTOSOMAL DOMINANT TUBULOINTERSTITIAL KIDNEY DISEASE

SOURCES: ORPHANET


Potential gene panels for UMOD gene

Hereditary Interstitial Kidney Disease Assay Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the UMOD gene.

More info about this panel

Renal Cystic Disorders Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Renal Cystic Disorders Sequencing Panel that also includes the following genes: SALL1 SDCCAG8 HNF1B TFAP2A TSC1 TSC2 CEP41 UMOD VHL ARL6

More info about this panel

ExomePLUS Cystic Disease & Dysplasia/Agenesis Panel

United States.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine ExomePLUS Cystic Disease & Dysplasia/Agenesis that also includes the following genes: BMP4 HNF1B TSC1 TSC2 UMOD WT1 INVS NPHP4 FRAS1 ANKS6

More info about this panel

UMOD-Associated Kidney Disease Panel

Czech Republic.

By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague

This panel specifically test the UMOD gene.

More info about this panel

Polycystic kidney and liver disease modifier panel Panel

United Kingdom.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Polycystic kidney and liver disease modifier panel that also includes the following genes: HNF1B TSC1 TSC2 UMOD DNAJB11 SEC61B SEC61A1 SEC63 ALG8 DZIP1L

More info about this panel

UMOD. Sequencing of the exons 3 and 4 Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the UMOD gene.

More info about this panel

UMOD. Sequencing of the exons 3, 4, 5 and 7 Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the UMOD gene.

More info about this panel

UMOD. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the UMOD gene.

More info about this panel

UMOD. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the UMOD gene.

More info about this panel

Medullary cystic kidney disease, AD (sequence analysis of UMOD gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the UMOD gene.

More info about this panel

UMOD-Associated Kidney Disease Panel

Belgium.

By Centre de Genetique Humaine Institut de Pathologie et de Genetique

This panel specifically test the UMOD gene.

More info about this panel

UMOD-Associated Kidney Disease Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the UMOD gene.

More info about this panel

Medullary cystic kidney disease 2 Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the UMOD gene.

More info about this panel

Medullary Cystic Kidney Disease type 2 and Familial Juvenile Hyperuricemic Nephropathy type 1 via UMOD Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the UMOD gene.

More info about this panel

Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection that also includes the following genes: ROBO2 SALL1 BMP4 BMP7 SIX1 SIX2 SIX5 SOX11 TBX18 HNF1B

More info about this panel

Hereditary Cystic Kidney Diseases Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hereditary Cystic Kidney Diseases Sequencing Panel with CNV Detection that also includes the following genes: SDCCAG8 HNF1B TSC1 TSC2 UMOD VHL NEK8 DNAJB11 ZNF423 DICER1

More info about this panel

Polycystic kidney disease and related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Polycystic kidney disease and related disorders NGS panel that also includes the following genes: HNF1B TSC1 TSC2 UMOD ALG9 ZNF423 INVS SEC61A1 BICC1 OFD1

More info about this panel

Polycystic kidney disease and related disorders Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Polycystic kidney disease and related disorders Deletion / Duplication panel that also includes the following genes: HNF1B TSC1 TSC2 UMOD ALG9 ZNF423 INVS SEC61A1 BICC1 OFD1

More info about this panel

Polycystic kidney disease and related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Polycystic kidney disease and related disorders Comprehensive panel that also includes the following genes: HNF1B TSC1 TSC2 UMOD ALG9 ZNF423 INVS SEC61A1 BICC1 OFD1

More info about this panel

Hyperuricemic nephropathy, familial juvenile Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Hyperuricemic nephropathy, familial juvenile Deletion / Duplication panel that also includes the following genes: UMOD SEC61A1 REN

More info about this panel

Hyperuricemic nephropathy, familial juvenile Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Hyperuricemic nephropathy, familial juvenile Deletion / Duplication panel that also includes the following genes: UMOD SEC61A1 REN

More info about this panel

Hyperuricemic nephropathy, familial juvenile NGS panel Panel

United States.

By Connective Tissue Gene Tests Hyperuricemic nephropathy, familial juvenile NGS panel that also includes the following genes: UMOD SEC61A1 REN

More info about this panel

Medullary cystic kidney disease 2 Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen

This panel specifically test the UMOD gene.

More info about this panel

Hereditary kidney disorders - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8

More info about this panel

Nephrology Endocrinology and Electrolytes - panels Panel

Germany.

By MGZ Medical Genetics Center Nephrology Endocrinology and Electrolytes - panels that also includes the following genes: ROBO2 SALL1 BLK BMP4 BMP7 SIX1 SIX2 SIX5 SLC12A1 SLC12A3

More info about this panel

Medullary cystic kidney disease 2 Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the UMOD gene.

More info about this panel

Medullary cystic kidney disease type 2 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the UMOD gene.

More info about this panel

Cystic Kidney Disease Panel Panel

Germany.

By CeGaT GmbH Cystic Kidney Disease Panel that also includes the following genes: SIX5 HNF1B UMOD BICC1 EYA1 MUC1 PAX2 PKD2 PKHD1

More info about this panel

Glomerulocystic kidney disease with hyperuricemia and isosthenuria Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the UMOD gene.

More info about this panel

Hyperuricemic nephropathy, familial juvenile 1 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the UMOD gene.

More info about this panel

Medullary cystic kidney disease 2 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the UMOD gene.

More info about this panel

Glomerulocystic kidney disease with hyperuricemia and isosthenuria Panel

Slovakia.

By MedGene

This panel specifically test the UMOD gene.

More info about this panel

Hyperuricemic nephropathy, familial juvenile 1 Panel

Slovakia.

By MedGene

This panel specifically test the UMOD gene.

More info about this panel

Medullary cystic kidney disease 2 Panel

Slovakia.

By MedGene

This panel specifically test the UMOD gene.

More info about this panel

Hyperuricemic nephropathy, Familial juvenile : UMOD gene screening (exons 3-7) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the UMOD gene.

More info about this panel

Medullary Cystic Kidney Disease 2: UMOD Full Gene Sequencing Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the UMOD gene.

More info about this panel

Medullary Cystic Kidney Disease 2: UMOD Gene Deletion/Duplication Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the UMOD gene.

More info about this panel

Ciliopathies: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Ciliopathies: Sequencing Panel that also includes the following genes: RPE65 RPGR ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 TSC1 TSC2 CEP41

More info about this panel

Ciliopathies: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Ciliopathies: Deletion/Duplication Panel that also includes the following genes: RPE65 RPGR ATXN10 SDCCAG8 TSC1 TSC2 TULP1 UMOD USH1C USH2A

More info about this panel

Ciliopathies NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Ciliopathies NGS Panel that also includes the following genes: RPE65 RPGR ATXN10 SDCCAG8 TULP1 UMOD USH1C USH2A CLRN1 VHL

More info about this panel

UMOD Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the UMOD gene.

More info about this panel

KidneySeq - 264 Genes Panel

United States.

By Iowa Institute of Human Genetics University of Iowa KidneySeq - 264 Genes that also includes the following genes: ROBO2 CNNM2 SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 BMP4 SEMA3E

More info about this panel

Cystic Kidney Disease Panel Panel

Finland.

By Blueprint Genetics Cystic Kidney Disease Panel that also includes the following genes: SDCCAG8 SIX5 HNF1B TSC1 TSC2 UMOD VHL NEK8 ZNF423 INVS

More info about this panel

Comprehensive Metabolism Panel Panel

Finland.

By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3

More info about this panel

Purine and Pyrimidine Metabolism Disorders Panel Panel

Finland.

By Blueprint Genetics Purine and Pyrimidine Metabolism Disorders Panel that also includes the following genes: TPMT UMOD UMPS XDH GPHN UPB1 NT5C3A MOCOS ADA DHODH

More info about this panel

Familial juvenile hyperuricemic nephropathy type 1 Panel

Spain.

By Bioarray

This panel specifically test the UMOD gene.

More info about this panel

Medullary cystic kidney disease 2 Panel

Spain.

By Bioarray

This panel specifically test the UMOD gene.

More info about this panel

Cystic Disease and Nephronopthisis Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Cystic Disease and Nephronopthisis Gene Set that also includes the following genes: SIX5 HNF1B UMOD NEK8 INVS CRB2 NPHP4 BICC1 AHI1 TTC21B

More info about this panel

HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE TYPE1 Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the UMOD gene.

More info about this panel

MEDULLARY CYSTIC KIDNEY DISEASE TYPE 2 (MCKD2) Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the UMOD gene.

More info about this panel

CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT (CAKUT) NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT (CAKUT) NGS PANEL that also includes the following genes: ROBO2 SALL1 BMP4 BMP7 SIX1 SIX2 SIX5 HNF1B UMOD UPK3A

More info about this panel

Autosomal Dominant Medullary Cystic Kidney Disease , Sequencing UMOD Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the UMOD gene.

More info about this panel

Familial Juvenile Hyperuricemic Nephropathy , Sequencing Exons (3-7) UMOD Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the UMOD gene.

More info about this panel

Familial Juvenile Hyperuricemic Nephropathy , Sequencing Rest Exons (2, 8-11) UMOD Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the UMOD gene.

More info about this panel

Medullary Cystic Kidney Disease with or without Hyperuricemia , Panel Massive Sequencing (NGS) MUC1, UMOD Genes Panel

Spain.

By Reference Laboratory Genetics Medullary Cystic Kidney Disease with or without Hyperuricemia , Panel Massive Sequencing (NGS) MUC1, UMOD Genes that also includes the following genes: UMOD MUC1

More info about this panel

Polycystic Kidney Disease Panel

Australia.

By Genome.One Polycystic Kidney Disease that also includes the following genes: HNF1B TSC1 TSC2 UMOD OFD1 GANAB PKD1 PKD2 PKHD1

More info about this panel

Medullary Cystic Kidney Disease 2: UMOD Gene Deletion/Duplication Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the UMOD gene.

More info about this panel

Medullary Cystic Kidney Disease 2: UMOD Gene Sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the UMOD gene.

More info about this panel


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